Canonical Allele Identifier: CA399844459

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42988815G>T (hg19) ; chr17:g.44911447G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911447G>T , CM000679.2:g.44911447G>T	GRCh38
NC_000017.10:g.42988815G>T , CM000679.1:g.42988815G>T	GRCh37
NC_000017.9:g.40344341G>T	NCBI36
NG_008401.1:g.9100C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.916C>A	ENSP00000253408.5:p.Leu306Met
ENST00000435360.8:c.916C>A	ENSP00000403962.1:p.Leu306Met
ENST00000253408.10:c.916C>A	ENSP00000253408.5:p.Leu306Met
ENST00000435360.7:c.916C>A	ENSP00000403962.1:p.Leu306Met
ENST00000585543.6:n.69C>A
ENST00000586127.6:n.1445C>A
ENST00000586793.6:c.907-126C>A	ENSP00000468500.2:n.907-126C>A
ENST00000587997.6:n.392C>A
ENST00000588735.3:c.916C>A MANE Select	ENSP00000466598.2:p.Leu306Met
ENST00000591327.2:n.2070C>A
ENST00000592320.6:c.619-126C>A	ENSP00000465320.1:n.619-126C>A
ENST00000638281.1:c.916C>A	ENSP00000491088.1:p.Leu306Met
ENST00000638618.1:c.571C>A	ENSP00000492832.1:p.Leu191Met
ENST00000639277.1:c.916C>A	ENSP00000492432.1:p.Leu306Met
ENST00000640552.1:n.930C>A
ENST00000253408.9:c.916C>A	ENSP00000253408.4:p.Leu306Met
ENST00000376990.8:c.*315C>A	ENSP00000366189.4:n.*315C>A
ENST00000435360.6:c.916C>A	ENSP00000403962.1:p.Leu306Met
ENST00000585543.5:n.69C>A
ENST00000586793.5:c.916C>A	ENSP00000468500.1:p.Leu306Met
ENST00000587997.5:c.392C>A
ENST00000588640.5:n.296C>A
ENST00000588735.1:c.83-3331C>A	ENSP00000466598.1:n.83-3331C>A
ENST00000591719.5:n.550C>A
ENST00000592320.5:c.619-126C>A	ENSP00000465320.1:n.619-126C>A
NM_001131019.2:c.916C>A	NP_001124491.1:p.Leu306Met
NM_001242376.1:c.916C>A	NP_001229305.1:p.Leu306Met
NM_002055.4:c.916C>A	NP_002046.1:p.Leu306Met
NM_001363846.1:c.916C>A	NP_001350775.1:p.Leu306Met
XM_024450690.1:c.1120C>A	XP_024306458.1:p.Leu374Met
XM_024450691.1:c.1120C>A	XP_024306459.1:p.Leu374Met
XM_024450692.1:c.1120C>A	XP_024306460.1:p.Leu374Met
XM_024450693.1:c.1120C>A	XP_024306461.1:p.Leu374Met
NM_002055.5:c.916C>A MANE Select	NP_002046.1:p.Leu306Met
NM_001131019.3:c.916C>A	NP_001124491.1:p.Leu306Met
NM_001242376.2:c.916C>A	NP_001229305.1:p.Leu306Met
NM_001242376.3:c.916C>A	NP_001229305.1:p.Leu306Met
NM_001363846.2:c.916C>A	NP_001350775.1:p.Leu306Met